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Biomedical subjects

F E Jansen

Publications and source records attributed to F E Jansen.

6 recordsLinked to original sources
PubMed2006

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.

Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous seizure types with nocturnal generalized tonic-clonic seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.

Adolescent↗
PubMed2004

Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.

In a tuberous sclerosis patient with a mutation in the TSC1 tumor suppressor gene, no second-hit mutation was found in a resected cortical tuber. Tuber giant cells showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosphorylation of S6. Differential accumulation of hamartin and tuberin in separate cellular compartments of giant cells may prevent formation of the hamartin-tuberin complex, resulting in increased S6 phosphorylation. These data provide an alternative mechanism for tuberogenesis.

Cerebral Cortex↗
PubMed2002

Diazepam-enhanced beta activity in Sturge Weber syndrome: its diagnostic significance in comparison with MRI.

OBJECTIVES: This study was performed to assess the extent of functional involvement of the affected hemisphere in Sturge Weber syndrome in comparison with the uninvolved hemisphere. To this end beta activity in the electroencephalogram (EEG) was measured, both before and after administration of diazepam intravenously (i.v.). METHODS: In 9 patients asymmetry in beta band activity was studied before and after diazepam administration. Several beta bands and asymmetry parameters were calculated. beta band asymmetries were compared with structural abnormalities (magnetic resonance imaging, MRI). RESULTS: Total beta activity was reduced in the involved hemisphere in all patients after diazepam administration. In 3 patients functional abnormalities were found in brain regions that were structurally intact. CONCLUSIONS: Decreased diazepam-enhanced beta activity in the EEG is a sensitive criterion of functional abnormality. In patients with subtle structural abnormalities diazepam-enhanced EEG may have added value in diagnosing functional involvement and in monitoring disease progression in patients.

Adolescent↗
PubMed2000

Aneurysm detection with computed tomographic angiography in a 1-month-old infant.

We report an infant whose clinical condition deteriorated acutely at 1 month of age because of a subarachnoid hemorrhage with an intracerebellar hematoma. Computed tomographic angiography revealed an aneurysm of the left posterior inferior cerebellar artery. Because of the critical condition of the child and her very young age, the decision to perform surgery was based solely on the computed tomographic angiography findings.

Cerebral Angiography↗